Rare Disease Day 2023 – Hattie Video, Coller & McKee Webinars, Missense SYNGAP1 iPSC, $20k, Apply for a Grant, Sprint4Syngap, Join us. #S10e95

Rare Disease Day 2023 – Hattie Video, Coller & McKee Webinars, Missense SYNGAP1 iPSC, $20k, Apply for a Grant, Sprint4Syngap, Join us. #S10e95

Rare Disease Day 2023 – Hattie Video, Coller & McKee Webinars, Missense SYNGAP1 iPSC, $20k, Apply for a Grant, Sprint4Syngap, Join us. #S10e95

It’s RARE DISEASE DAY! Hattie has a new video!

https://www.syngapresearchfund.org/families/movies 

I’m off to DC for NIH Day and RD Advocacy with Everylife Foundation

– https://ncats.nih.gov/news/events/rdd

– https://everylifefoundation.org/rare-advocates/rare-disease-week/ 

We have a $20k match! 

– https://syngap.fund/rdd23 

– https://secure.givelively.org/donate/syngap-research-fund-incorporated/srf-rare-disease-day-2023

Deadline for Grants is 3/1

– https://www.syngapresearchfund.org/post/134-apply-for-syngap1-research-grants-by-march-1st-or-september-1st 

#Sprint4Syngap

– https://syngap.fund/sprint23 

– Main page https://secure.givelively.org/donate/syngap-research-fund-incorporated/sprint4syngap-2023 

– 15 Teams! Eight already raising funds: Team Tavilla, Emma Mae, Reef, Kai, Naya, Hope4Hadley, Teddy & Lizzy.  Seven more ready to go.

– Remember, there is an adaptive bike in play!

– New family has an event to go to… COMMUNITY

Amazing Webinars

– Jeff Coller – mRNA – March 16th  https://www.syngapresearchfund.org/webinars/68-harnessing-messenger-rna-metabolism-for-the-development-of-precision-gene-therapy-syngap1 

– Jillian McKee – April 27th – https://syngap.fund/mckee 

Ciitizen SYNGAP1 count is at 209! Sign up or Update your Ciitizen Records

– Sign-UP https://ciitizen.com/syngap1 

– Sign-IN https://app.ciitizen.com/

iPSCs & Missense Mutations/Variants

– https://syngap.fund/ipsc  

– https://www.syngapresearchfund.org/ips-cell-models

– 30 lines, 3 missense on the list, 1 more in Europe I know about

– I urge you to raise for cell lines if you are a missense.  $4k for a line, $7k for an isogenic control, $11k to make sure a mutation has a chance to be studied.  30% risk on the first line.

There is so much work to do, volunteer

– [email protected] 

This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here

– https://www.syngapresearchfund.org/syngap10-podcast

Apple podcasts: 

https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1-video/id1560389818

Episode 95 of #Syngap10 – February 28,  2023 

#epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat